DISEASES

Disease-gene associations mined from literature

Human genes for congenital muscular dystrophy-dystroglycanopathy type A6

Congenital muscular dystrophy-dystroglycanopathy type A6 [DOID:0111242]

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy type A6,  DOID:0111242,  congenital muscular dystrophydystroglycanopathy type A6,  MDDGA6,  Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related ...